1,111 results on '"Neoplasms, Connective Tissue"'
Search Results
2. Study to Assess the Safety, Pharmacokinetics and Efficacy of KRN23 in Adult Chinese Patients With TIO
- Published
- 2024
3. A Study of THE-630 in Patients With Advanced Gastrointestinal Stromal Tumors (GIST)
- Published
- 2024
4. Study of Burosumab (KRN23) in Adults With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome (ENS)
- Published
- 2024
5. Neoadjuvant Combination of Doxorubicin, Cisplatin and Methotrexate in Patients Aged 24-40 Years With Primary Bone Tumors
- Published
- 2024
6. Percutaneous Needle Fasciotomy +/- Corticosteroid Injection for Dupuytren's Contracture
- Author
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Laura Houstrup Matthiesen, Medical Student, PhD Student
- Published
- 2023
7. A Trial For Participants With Ewing's Sarcoma Treated With Vigil in Combination With Irinotecan and Temozolomide (VITA)
- Published
- 2023
8. A Study of KRN23 in Subjects With Tumor-Induced Osteomalacia or Epidermal Nevus Syndrome
- Published
- 2022
9. Update in Imaging Evaluation of Bone and Soft Tissue Sarcomas
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Alex Guedes, Marcelo Bragança dos Reis Oliveira, Adelina Sanches de Melo, and Clarissa Canella Moraes do Carmo
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diagnostic imaging ,multimodal imaging ,neoplasms, connective tissue ,neoplasms, bone tissue ,radiology ,sarcoma ,Medicine ,Orthopedic surgery ,RD701-811 - Abstract
Abstract The evolution in imaging evaluation of musculoskeletal sarcomas contributed to a significant improvement in the prognosis and survival of patients with these neoplasms. The precise characterization of these lesions, using the most appropriate imaging modalities to each clinical condition presented, is of paramount importance in the design of the therapeutic approach to be instituted, with a direct impact on clinical outcomes. The present article seeks to update the reader regarding imaging methodologies in the context of local and systemic evaluation of bone sarcomas and soft tissues.
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- 2023
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10. BGJ398 for the Treatment of Tumor-Induced Osteomalacia
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- 2021
11. Application of 68Ga-DOTA-TATE and 68Ga-DOTA-JR11 PET/CT in the Diagnosis and Evaluation of TIO
- Published
- 2021
12. Updating on Bone and Soft Tissue Sarcomas Staging
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Alex Guedes, Marcelo Bragança dos Reis Oliveira, Flávia Martins Costa, and Adelina Sanches de Melo
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neoplasm staging ,sarcoma ,neoplasms, connective tissue ,neoplasms, bone tissue ,diagnostic imaging ,pathology, surgical ,Medicine ,Orthopedic surgery ,RD701-811 - Abstract
Abstract Bone and soft tissue sarcomas consist of a heterogeneous group of malignant tumors of mesenchymal origin that can affect patients from any age. The precise staging of these lesions determines the best therapeutic strategies and prognosis estimates. Two staging systems are the most frequently used: the system proposed by the University of Florida group, led by Dr. William F. Enneking (1980) and adopted by the Musculoskeletal Tumor Society (MSTS), and the system developed by the American Joint Committee on Cancer (AJCC) (1977), currently in its 8th edition (2017). This paper updates the reader on the staging of bone and soft tissue sarcomas affecting the musculoskeletal system.
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- 2021
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13. Fibrous hamartoma of infancy with sarcomatous transformation: an unusual morphology
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Gargi Kapatia, Debajyoti Chatterjee, Kirti Gupta, and Amita Trehan
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Hamartoma ,Neoplasms, Fibrous Tissue ,Neoplasms, Connective Tissue ,Neoplasms, Connective and Soft Tissue ,Medicine ,Internal medicine ,RC31-1245 - Abstract
Background: Fibrous hamartoma of infancy (FHI) is a rare soft tissue lesion arising as a subcutaneous mass involving the axilla, trunk, and upper arm in infants and children
- Published
- 2022
14. 68Ga-DOTATATE PET/CT in Oncogenic Osteomalacia
- Published
- 2017
15. Bilateral renal metastases from extraskeletal mesenchymal chondrosarcoma of thigh
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Himanshu Pruthi, Harish Bhujade, Reetu Kundu, and Srinivasa GY
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Adult ,Neoplasms, Connective Tissue ,Thigh ,Chondrosarcoma ,Humans ,Chondrosarcoma, Mesenchymal ,General Medicine - Abstract
Mesenchymal chondrosarcoma (MC) is a rare cartilaginous tumour that occurs in the extraskeletal locations in about one-third of cases. It is aggressive in behaviour and may involve the lower extremities, central nervous system or spine. Mesenchymal tumours are known for distant metastasis; however, metastasis to bilateral kidneys after treatment has not been reported earlier. We present a case of a soft-tissue intramuscular MC of the thigh in a 38-year-old patient which had been surgically excised after neoadjuvant chemotherapy. The patient presented with bilateral dense calcified renal masses after 6 years, which were cytologically proven as MC metastases. In the evaluation of bilateral calcified renal masses in patients with a history of MC, metastasis should be considered.
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- 2024
16. Molecular Pathways Involved in the Pathogenesis and Behavior of Mesenchymal Phosphaturic Tumors Causing Oncogenic Osteomalacia
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Maria Yavropoulou, Dr
- Published
- 2015
17. Cutaneous Malignant Mixed Tumor With Pulmonary Metastasis: A Case Report and Literature Review.
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Haberecht H, Tekin B, Warren K, and Guo RR
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- Female, Humans, Aged, Lung Neoplasms secondary, Mixed Tumor, Malignant, Neoplasms, Connective Tissue, Skin Neoplasms pathology, Sweat Gland Neoplasms pathology
- Abstract
Background: Cutaneous malignant mixed tumor (MMT) is a rare sweat gland-derived tumor characterized by admixed malignant epithelial cells and chondromyxoid stroma. Approximately 50 cases have been described in the literature. Metastasis, which may occur in more than one-third of cases, is most common in the lung., Methods: We summarized the clinicopathologic features of a patient with cutaneous MMT metastatic to the lungs. A literature review of similar cases was completed using Web of Science, Scopus, and PubMed databases., Results: A woman in her 70s presented with an enlarging mass on her left eyebrow; histopathologic examination showed large islands of atypical cells with increased mitotic activity, admixed with necrosis on a background of fibrotic and chondromyxoid stroma. Multiple lung nodules were identified during follow-up. Examination of a pulmonary core needle biopsy specimen was consistent with metastatic cutaneous MMT. Literature review identified 10 cases published between 1980 and 2017. Most primary tumors were large (≥4 cm). Local recurrence was uncommon, and the lung was the only metastatic site in 5 cases. Histopathologically, metastatic tumors were described as more cellular, with diminished stromal tissue compared with the primary lesion., Conclusion: This is 1 of the 11 reports of cutaneous MMT with metastasis to the lungs found in the English-language literature published after 1980. Of note, most reports were published before 1990, making this case study one of the few contemporary descriptions of cutaneous MMT with pulmonary metastases. We think that the present case report will increase the awareness of this rare tumor., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)
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- 2024
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18. Acquired Forms of Fibroblast Growth Factor 23-Related Hypophosphatemic Osteomalacia.
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Ito N, Hidaka N, and Kato H
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- Humans, Paraneoplastic Syndromes, Hypophosphatemia, Rickets, Hypophosphatemic, Neoplasms, Connective Tissue, Fibroblast Growth Factor-23, Osteomalacia, Fibroblast Growth Factors blood
- Abstract
Fibroblast growth factor 23 (FGF23) is a pivotal humoral factor for the regulation of serum phosphate levels and was first identified in patients with autosomal dominant hypophosphatemic rickets and tumor-induced osteomalacia (TIO), the most common form of acquired FGF23-related hypophosphatemic rickets/osteomalacia (FGF23rHR). After the identification of FGF23, many other inherited and acquired forms of FGF23rHR were reported. In this review article, the detailed features of each acquired FGF23rHR are discussed, including TIO, ectopic FGF23 syndrome with malignancy, fibrous dysplasia/McCune-Albright syndrome, Schimmelpenning-Feuerstein-Mims syndrome/cutaneous skeletal hypophosphatemia syndrome, intravenous iron preparation-induced FGF23rHR, alcohol consumption-induced FGF23rHR, and post-kidney transplantation hypophosphatemia. Then, an approach for the differential diagnosis and therapeutic options for each disorder are concisely introduced. Currently, the majority of endocrinologists might only consider TIO when encountering patients with acquired FGF23rHR; an adequate differential diagnosis can reduce medical costs and invasive procedures such as positron emission tomography/computed tomography and venous sampling to identify FGF23-producing tumors. Furthermore, some acquired FGF23rHRs, such as intravenous iron preparation/alcohol consumption-induced FGF23rHR, require only cessation of drugs or alcohol to achieve full recovery from osteomalacia.
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- 2024
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19. Tumour-induced osteomalacia: a rare cause of chronic pain and weakness
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John T Nasr, Jack Tohme, Michael T Collins, Matthew T Drake, Iris R Hartley, Jad Sfeir, Keith Dockery, and Metin Taskin
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Neoplasms, Connective Tissue ,Hypophosphatemia ,Paraneoplastic Syndromes ,Osteomalacia ,Humans ,Neurology (clinical) ,General Medicine ,Chronic Pain - Abstract
Tumor-induced osteomalacia is a rare and often misdiagnosed condition that presents with progressively worsening unexplained chronic pain and proximal muscle weakness. The osteomalacia leads to multiple stress fractures which do not heal properly, leading to progressive disability. It is caused by chronic hypophosphatemia due to inappropriate urinary phosphate wasting. This is due to a typically benign mesenchymal tumor that over-secretes a phospaturic hormone. Neurologists need to appreciate the relevance of chronic hypophosphatemia in people with chronic unexplained pain, as timely diagnosis and treatment of tumour-induced osteomalacia can be curative.
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- 2022
20. Clinical Challenges in Diagnosis, Tumor Localization and Treatment of <scp>Tumor‐Induced</scp> Osteomalacia: Outcome of a Retrospective Surveillance
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Naoko Hidaka, Minae Koga, Soichiro Kimura, Yoshitomo Hoshino, Hajime Kato, Yuka Kinoshita, Noriko Makita, Masaomi Nangaku, Kazuhiko Horiguchi, Yasushi Furukawa, Keizo Ohnaka, Kenichi Inagaki, Atsushi Nakagawa, Atsushi Suzuki, Yasuhiro Takeuchi, Seiji Fukumoto, Fumihiko Nakatani, and Nobuaki Ito
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Male ,Neoplasms, Connective Tissue ,Delayed Diagnosis ,Hypophosphatemia ,Paraneoplastic Syndromes ,Endocrinology, Diabetes and Metabolism ,Middle Aged ,Fibroblast Growth Factors ,Osteomalacia ,Humans ,Female ,Orthopedics and Sports Medicine ,Receptors, Somatostatin ,Retrospective Studies - Abstract
Tumor-induced osteomalacia (TIO) is an acquired fibroblast growth factor 23 (FGF23)-related hypophosphatemic osteomalacia caused by phosphaturic mesenchymal tumors (PMTs) developed in the bone or soft tissue. Diagnostic delay should be addressed, and ideal techniques to localize PMTs and efficient treatment options should be explored to improve the outcomes of this rare disease. To clarify the detailed clinical course and outcomes of TIO patients, retrospective questionnaire surveys were conducted among physicians from the Japanese Society for Bone and Mineral Research (JSBMR) and the Japan Endocrine Society (JES). The primary survey collected the number of TIO patients between January 2007 and December 2018. The secondary survey aimed to obtain the detailed characteristics, laboratory data, and outcomes. Eighty-eight patients (52 males, mean: 52 years old) were included, and 24 patients were clinically diagnosed with TIO without localized PMTs. The median duration from the onset to detection of high FGF23 levels was 3.4 years, with 77 patients being initially misdiagnosed. Among the methods used to detect small, localized PMTs (≤10 mm), fluorine-18-fluorodeoxyglucose-positron emission tomography/computed tomography and somatostatin receptor scintigraphy were less sensitive than somatostatin receptor positron emission tomography/computed tomography (SRPET/CT). Systemic venous sampling (SVS) of FGF23 was performed in 53 patients; among them, SVS was considered useful for detecting localized PMTs in 45 patients with diverse tumor sizes. Finally, 45 patients achieved biochemical remission by surgery, 39 patients continued pharmaceutical treatment, including burosumab (11 patients), and four patients died. These results encouraged us to further increase the awareness of TIO and to improve the accessibility of SRPET/CT and SVS. Further evidence about the efficacy of new pharmaceutical treatments is awaited. © 2022 American Society for Bone and Mineral Research (ASBMR).
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- 2022
21. A literature review to understand the burden of disease in people living with tumour-induced osteomalacia
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Salvatore, Minisola, Adele, Barlassina, Sally-Anne, Vincent, Sue, Wood, and Angela, Williams
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Fibroblast Growth Factors ,Neoplasms, Connective Tissue ,Cost of Illness ,Hypophosphatemia ,Paraneoplastic Syndromes ,Endocrinology, Diabetes and Metabolism ,Osteomalacia ,Humans - Abstract
This study reviews publications to describe the signs, symptoms and impact of tumour-induced osteomalacia (TIO) on patients' burden of disease. TIO is associated with a spectrum of signs and symptoms imposing a significant clinical burden, but the psychosocial impact of this rare disease has been poorly researched so far.To describe the signs, symptoms and impacts of tumour-induced osteomalacia (TIO) and summarise the state of research on the burden of disease of this ultra-rare condition.A targeted literature review was conducted in PubMed using pre-defined search terms. Relevant articles published between 1980 and 2021 were screened for inclusion. Seventy records were selected for analysis. Data were extracted and grouped into categories and sub-categories to identify recurrent signs, symptoms and impacts of TIO and describe the burden on patients. Chord diagrams were created to analyse the relationships between different TIO outcomes and characterise the presentation of TIO.Although the number of articles on TIO published have been increasing over the past 20 years, most studies were case reports and case series (n = 65/70) and only few were studies with higher quality of evidence (n = 5/70). Most articles were based on data reported by clinicians (n = 67/70). Patients with TIO experienced a combination of outcomes including chronic pain, weakness, skeletal-related manifestations and limitations in mobility. Only a few studies (n = 2/70) analysed the burden of TIO on the emotional wellbeing and on the work life of the patient.Patients with TIO present with a spectrum of signs and symptoms that impose a significant burden. The impact on the psychosocial wellbeing of patients should be further investigated, as this has been poorly researched so far. Studies with high quality of evidence should be designed to further the understanding of the burden of disease of TIO from the patient's perspective.
- Published
- 2022
22. [Anal adenocarcinoma combined with perianal Paget disease involving vulva: a case report].
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Li GB, Shi WK, Zhang N, and Lin GL
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- Female, Humans, Vulva, Adenocarcinoma, Anus Neoplasms, Neoplasms, Connective Tissue, Skin Neoplasms
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- 2024
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23. Diagnosis and treatment of malignant eyelid tumors.
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Gniesmer S, Sonntag SR, Schiemenz C, Ranjbar M, Heindl LM, Varde MA, Emmert S, Grisanti S, and Kakkassery V
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- Humans, Eyelid Neoplasms diagnosis, Skin Neoplasms, Carcinoma, Basal Cell diagnosis, Melanoma pathology, Neoplasms, Connective Tissue, Sebaceous Gland Neoplasms pathology
- Abstract
Background: Malignant tumors of the eyelid are much less frequent than benign eyelid alterations. These are frequently incidental findings without symptoms which are often overlooked or misinterpreted by patients., Objective: This article gives an overview of clinical aspects, diagnostics and treatment of the five most common malignant eyelid tumors and exemplarily explains the essential principles of evidence-based treatment of malignant eyelid tumors., Methods: This narrative review was prepared based on a selective literature search. The depiction of the treatment of eyelid tumors is supported by illustrations of clinical cases., Results: The medical history and inspection provide initial indications of malignancy. Every eyelid change suspected of being malignant should be examined histologically to confirm a diagnosis. By far the most common malignant eyelid tumor in Europe is basal cell carcinoma, which metastasizes only in exceptional cases. Squamous cell carcinomas, sebaceous adenocarcinomas, melanomas and Merkel cell carcinomas occur much less frequently. In these cases, potential metastasis in particular must be considered when making the diagnosis and staging has to be initiated. Surgical excision into healthy tissue with tumor-free margins is the gold standard for malignant eyelid tumors. Non-surgical adjuvant or neoadjuvant forms of evidence-based treatment can be initiated based on the individual case to minimize the risk of recurrence and metastasis., Conclusion: It is essential to recognize eyelid changes at an early stage, to classify them correctly and to initiate the appropriate treatment. The interaction between the general condition and the personal needs of a patient as well as state of the art medicine are the keys to a good personalized treatment., (© 2023. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature.)
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- 2024
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24. Prevalence and characteristics of benign cartilaginous tumours of the shoulder joint. An MRI-based study.
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Woltsche JN, Smolle M, Szolar D, Bergovec M, and Leithner A
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- Humans, Retrospective Studies, Prevalence, Magnetic Resonance Imaging methods, Humerus, Shoulder Joint diagnostic imaging, Shoulder Joint pathology, Neoplasms, Connective Tissue, Bone Neoplasms diagnostic imaging, Bone Neoplasms pathology, Chondroma diagnostic imaging, Chondroma epidemiology, Chondroma pathology
- Abstract
Objective: Enchondromas (EC) of the shoulder joint are benign intraosseous cartilage neoplasms, with atypical cartilaginous tumours (ACT) representing their intermediate counterpart. They are usually found incidentally on clinical imaging performed for other reasons. Thus far the prevalence of ECs of the shoulder has been analysed in only one study reaching a figure of 2.1%., Materials and Methods: The aim of the current study was to validate this number via retrospective analysis of a 45 times larger, uniform cohort consisting of 21.550 patients who had received an MRI of the shoulder at a single radiologic centre over a time span of 13.2 years., Results: Ninety-three of 21.550 patients presented with at least one cartilaginous tumour. Four patients showed two lesions at the same time resulting in a total number of 97 cartilage tumours (89 ECs [91.8%], 8 ACTs [8.2%]). Based on the 93 patients, the overall prevalence was 0.39% for ECs and 0.04% for ACTs. Mean size of the 97 ECs/ACTs was 2.3 ± 1.5 cm; most neoplasms were located in the proximal humerus (96.9%), in the metaphysis (60.8%) and peripherally (56.7%). Of all lesions, 94 tumours (96.9%) were located in the humerus and 3 (3.1%) in the scapula., Conclusion: Frequency of EC/ACT of the shoulder joint appears to have been overestimated, with the current study revealing a prevalence of 0.43%., (© 2023. The Author(s).)
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- 2024
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25. Navigating the Complexity of Dual Clonality in Cutaneous Lymphoma: Challenge.
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Shaker N, Phelps R, Cabala CT, Niedt G, Sangueza OP, and Pradhan D
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- Humans, Lymphoma, T-Cell, Cutaneous genetics, Skin Neoplasms genetics, Neoplasms, Connective Tissue
- Abstract
Competing Interests: The authors declare no conflicts of interest.
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- 2023
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26. Sternoclavicular joint pseudotumor: a clinicopathologic and radiologic study of 25 cases occurring in patients without prior neck dissection
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Jeremiah F. Molligan, Garret M. Powell, Doris E. Wenger, Jorge Torres-Mora, and Andrew L. Folpe
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Diagnosis, Differential ,Male ,Neoplasms, Connective Tissue ,Humans ,Neck Dissection ,Female ,Soft Tissue Neoplasms ,Sternoclavicular Joint ,Pathology and Forensic Medicine - Abstract
Pseudotumors of the sternoclavicular joint are rare, poorly characterized pseudoneoplastic lesions previously reported in association with prior neck dissection and thought to result from mechanical instability of the muscles of the shoulder girdle. We report 25 examples of this distinctive process, occurring in patients without a history of neck dissection, typically sent in consultation out of concern for a primary bone or soft-tissue tumor. Cases occurred in 14 women and 11 men (median = 68 years of age) and involved the sternoclavicular joint (17 cases), sternomanubrial joint (2 cases) or other nearby locations (6 cases). The masses ranged from 0.4 to 6.4 cm in size (median = 2.2 cm). Twenty-one patients (84%) had a clinical history of osteoarthritis involving other joints. Clinical follow-up (16 patients; mean = 11.4 months; range = 2-40 months) was uniformly benign, without evidence of recurrent disease. Radiologic review showed changes of osteoarthritis, often with cystic change. Pathologic features included degenerating cartilage, fibrinoid debris, pseudocyst formation, and florid proliferation of myofibroblasts and capillaries. The differential diagnosis of sternoclavicular/sternomanubrial pseudotumors centers around cartilaginous tumors of bone, in particular chondrosarcoma. Careful clinical, radiographic, and pathologic correlations are essential in arriving at the correct diagnosis and avoiding overtreatment.
- Published
- 2022
27. Surgical margin for phosphaturic mesenchymal tumors in soft tissues: An analysis of the radiological histopathological correlation
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Naohiro Makise, Masachika Ikegami, Yuki Ishibashi, Sakae Tanaka, Nobuaki Ito, Yusuke Shinoda, Liuzhe Zhang, Minae Koga, Toru Akiyama, Tetsuo Ushiku, and Hiroshi Kobayashi
- Subjects
Surgical margin ,medicine.medical_specialty ,Tumor resection ,Soft Tissue Neoplasms ,Infiltrative Growth ,03 medical and health sciences ,0302 clinical medicine ,Humans ,Mesenchymoma ,Medicine ,Orthopedics and Sports Medicine ,Neoplasms, Connective Tissue ,030222 orthopedics ,Osteomalacia ,business.industry ,Mesenchymal stem cell ,Margins of Excision ,Soft tissue ,medicine.disease ,Radiological weapon ,Surgery ,Radiology ,Neoplasm Recurrence, Local ,business ,030217 neurology & neurosurgery ,Hypophosphatemia - Abstract
Background Phosphaturic mesenchymal tumors primarily cause tumor-induced osteomalacia, a rare paraneoplastic syndrome, and half occur in soft tissues. There are few reports about the surgical margins of these tumors. This study aimed to clarify the optimal surgical margin for phosphaturic mesenchymal tumors by analyzing radiological and histopathological features. Methods This study included eight cases, seven primary and one recurrent, of tumor-induced osteomalacia caused by soft-tissue phosphaturic mesenchymal tumors that were surgically treated between January 2000 and January 2019. We evaluated the radiological and histopathological features of all tumors and investigated the correlation of these features, the surgical margin, and recurrence of hypophosphatemia. Results The tumors were located in superficial (n = 5) and deep (n = 3) tissues. Six of the eight tumors had a clear boundary, but five had an irregular margin. Three tumors had a hypointense rim on T2-weighted images, indicating fibrous tumor encapsulation. Histopathological analysis revealed infiltrative growth in six of the eight tumors, which correlated with an irregular margin seen on imaging. Although there was no recurrence in patients treated with an intended wide margin >1 cm, one of the three patients treated with marginal tumor resection experienced a recurrence of hypophosphatemia, with histopathological analysis showing infiltration of subcutaneous fat. In contrast, two tumors with clear boundaries, regular margins, and fibrous capsule seen on imaging, had no infiltrative growth and were cured by marginal resection. In one recurrent case, tumor infiltration was observed in the previous surgical scar, which was not detected on preoperative imaging. Conclusions Soft-tissue phosphaturic mesenchymal tumors with an irregular boundary seen on imaging tend to be infiltrative, especially into subcutaneous fat, and should be treated by at least a 1-cm wide margin resection. Tumors with a fibrous capsule with clear and regular margins are cured by marginal margin resection. These findings could inform surgeons' decisions regarding the resection of soft-tissue phosphaturic mesenchymal tumors.
- Published
- 2021
28. Digital Papillary Adenocarcinoma in Nonacral Skin: Clinicopathologic and Genetic Characterization of 5 Cases.
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Kervarrec T, Imbeaud S, Veyer D, Pere H, Puech J, Pekár-Lukacs A, Markiewicz D, Coutts M, Tallet A, Collin C, Berthon P, Bravo IG, Seris A, Jouary T, Macagno N, Touzé A, Cribier B, Battistella M, and Calonje E
- Subjects
- Humans, Male, Female, Middle Aged, Aged, Aged, 80 and over, Biomarkers, Tumor genetics, Sweat Gland Neoplasms chemistry, Bone Neoplasms, Breast Neoplasms, Neoplasms, Connective Tissue, Adenocarcinoma, Papillary pathology
- Abstract
Digital papillary adenocarcinoma (DPA) is a rare sweat gland neoplasm that has exceptionally been reported outside acral locations. Recently, human papillomavirus 42 was identified as the main oncogenic driver of DPA. Herein, we report 5 tumors arising in extra-acral locations predominantly in the female anogenital skin. Four patients were female and 1 patient was male. The mean age at the diagnosis time was 65 years (range: 55 to 82 y). Tumors were located on the vulva (n=3), perianal area (n=1), and forearm (n=1). Histologically, all tumors were lobular and mainly solid and composed of sheets of cells with rare focal papillae and frequent glandular structures in a "back-to-back" pattern and lined by atypical basophilic cells. Immunohistochemistry showed diffuse positivity for SOX10. Epithelial membrane antigen and carcinoembryonic antigen highlighted the luminal cells and staining for p63 and p40 revealed a consistent and continuous myoepithelial component around glandular structures. Follow-up was available in 3 cases (mean duration: 12 mo [range: 8 to 16 mo]). One patient developed local recurrence and 1 experienced regional lymph node metastases. HPV Capture Next-generation sequencing revealed the presence of the HPV42 genome in all samples. Viral reads distributions were compatible in the 5 cases with an episomal nature of the viral genome, with a recurrent deletion in the E1 and/or E2 open reading frames. In conclusion, this study demonstrates that digital DPA may rarely present in nonacral locations mainly in the female anogenital area, usually with a more solid pattern as compared with those cases presenting on the digits and it is also associated with HPV42., Competing Interests: Conflicts of Interest and Source of Funding: The authors have disclosed that they have no significant relationships with, or financial interest in, any commercial companies pertaining to this article., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)
- Published
- 2023
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29. Primary pulmonary epithelioid hemangioendothelioma.
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Jang YC, Hung WC, Su TC, and Wu WP
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- Female, Humans, Lung Neoplasms diagnosis, Hemangioendothelioma, Epithelioid diagnosis, Hemangioendothelioma, Epithelioid surgery, Bone Neoplasms, Breast Neoplasms, Neoplasms, Connective Tissue, Skin Neoplasms, Multiple Pulmonary Nodules
- Abstract
Pulmonary epithelioid hemangioendothelioma (PEH) is a rare tumour of vascular origin with low to intermediate malignancy. Typical radiological finding on CT is multiple small nodules in bilateral lungs, and some will have punctate calcifications and pleural thickening. The diagnosis of PEH is confirmed by histopathological findings and positive immunohistochemistry staining. We report a case of a woman in her 50s with a medical history of lung adenocarcinoma. Later, regular chest CT during a routine cancer follow-up revealed multiple small pulmonary nodules and increased sizes of these nodules on serial images, initially misdiagnosed as multiple lung metastases. The histopathological diagnosis was made on a pulmonary wedge resection. Finally, PEH was diagnosed on the basis of positive immunohistochemical staining for CD31, ERF and TFE3. In the current study, the clinicopathological features and review of the literature were investigated. Our case highlights the importance of a histological diagnosis to avoid misdiagnosis., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ.)
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- 2023
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30. Spindle Cell Lipoma With Florid Primary Follicular Lymphocytic Hyperplasia: A Novel Association With Potential Diagnostic Pitfalls.
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Fattah YH, Liu SS, Susa J, Hanly A, Russo J, and Karai LJ
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- Humans, Hyperplasia, Lipoma diagnosis, Lipoma pathology, Lymphoma, B-Cell, Neoplasms, Connective Tissue, Skin Neoplasms diagnosis
- Abstract
Abstract: Spindle cell lipoma (SCL) is a benign subcutaneous lipomatous neoplasm with a heterogeneous histologic appearance that varies greatly depending on the amount of fat, collagen, and myxoid stroma, which define the multiple subtypes of SCL, such as fat poor SCL, pseudoangiomatous SCL, and dendritic fibromyxolipoma. Cutaneous lymphoid hyperplasia is a spectrum of benign conditions characterized by reactive B-cell and T-cell cutaneous lymphocytic infiltrates. Cutaneous B-cell lymphoid hyperplasia is a heterogeneous group of non-neoplastic conditions that can be observed as reactive phenomena to infections, medications, allergens, or neoplasms and must be distinguished from cutaneous B-cell lymphomas. Here, we report a novel case of spindle cell lipoma, associated with B-cell primary lymphoid follicular hyperplasia, mixed within the tumor in a peculiar pattern, while discussing potential diagnostic pitfalls with low-grade B-cell lymphomas. This is the first report of such association in the literature., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)
- Published
- 2023
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31. Pulmonary lymphangioleiomyomatosis and renal angiomyolipoma in a patient with systemic lupus erythematosus: A case report
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Jeong Suk Koh, Sina Oh, and Chaeuk Chung
- Subjects
Adult ,Neoplasms, Connective Tissue ,TOR Serine-Threonine Kinases ,Angiomyolipoma ,Bronchial Neoplasms ,Anti-Inflammatory Agents ,General Medicine ,Kidney Neoplasms ,Anti-Bacterial Agents ,Young Adult ,Tuberous Sclerosis ,Humans ,Lupus Erythematosus, Systemic ,Female ,Tracheal Neoplasms ,Lymphangioleiomyomatosis ,Diuretics - Abstract
The co-incidence of systemic lupus erythematosus (SLE) and tuberous sclerosis with pulmonary lymphangioleiomyomatosis (LAM) and renal angiomyolipoma (AML) is rare. In such patients, the rupture of renal AML may result in fatal circumstances, but this may be preventable.A 22-year-old Asian woman with SLE was admitted to our hospital with severe left-flank pain. Imaging studies showed the bilateral rupture of multiple renal AMLs.The patient underwent emergency selective transcatheter embolization (TE) of the left renal artery. After TE and massive hydration, the patient complained of dyspnea and postembolization syndrome with fever. The chest computed tomography (CT) revealed pulmonary LAM, pulmonary edema with bilateral pleural effusions, and pneumonic consolidation. After the emergency procedure, the patient was treated with intravenous administration of antibiotics, diuretics, and nonsteroidal anti-inflammatory drugs for 10 days. The patient recovered favorably and was discharged 20 days after the treatment. She was diagnosed with renal AML and pulmonary LAM along with facial angiofibromas as well as tuberous sclerosis complex (TSC), although she had no TSC1 or TSC2 gene mutations.Although rare, SLE may coexist with TSC, along with LAM and AML, with a risk of AML rupture. The activation of the mTOR signaling pathway is shared between SLE and TSC. Thus, in patients with SLE, clinicians should consider imaging studies, such as kidney sonography and chest CT, to screen for possible manifestation of AML and LAM.
- Published
- 2022
32. Reconstruction of forearm support with ulnar translocation after resection of chondrosarcoma in the proximal radius
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Yang, Zongqiang, Niu, Ningkui, Tang, Jing, Wu, Longyun, He, Jinwen, and Shi, Jiandang
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- 2020
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33. A Connective Tissue Neoplasm of the Mandibular Angle Mimicking Stafne’s Bone Cavity on Panoramic View
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Alexandre T Assaf, Reinhard E Friedrich, Andreas M. Luebke, Ulrike S Speth, Martin Gosau, and Shih-Jan Chin
- Subjects
Adult ,Male ,Cancer Research ,medicine.medical_specialty ,Cone beam computed tomography ,Osteolysis ,Mandible ,Mandibular angle ,Lesion ,Young Adult ,medicine ,Humans ,Connective tissue neoplasm ,Neoplasms, Connective Tissue ,business.industry ,Bone deformity ,General Medicine ,Cone-Beam Computed Tomography ,medicine.disease ,Mandibular Neoplasms ,Oncology ,Bone lesion ,Radiology ,medicine.symptom ,business - Abstract
Background When assessing sharply delineated bone lesions of the mandibular angle on X-rays, numerous diagnoses must be considered. The static bone cavity (Stafne's bone cavity, SBC) is a harmless lingual bone depression of the mandibular angle that usually does not require any treatment. It is essential to differentiate this bone deformity from other lesions that may require treatment. Case report The 22-year-old patient was referred for further diagnosis and therapy after osteolysis of the mandible was noticed on a panoramic view (PV). The location and size of the lesion was typical of SBC. Only the three-dimensional representation of the lesion on cone beam computed tomographs revealed an intraosseous lesion. Histological examination of the lesion provided evidence of a fibrous neoplasm. Conclusion The typical image of SBC is ambiguous on plain radiographs such as PV. The radiological diagnosis of the lesion should be based on the representation of the region of interest in different planes.
- Published
- 2021
34. Calcified chondroid mesenchymal neoplasms with FN1-receptor tyrosine kinase gene fusions including FGFR2, FGFR1, MERTK, NTRK1, and TEK: a molecular and clinicopathologic analysis
- Author
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Robert W. Ricciotti, Yajuan J. Liu, Christopher D.M. Fletcher, Yu Wu, Wenjing Wang, Eleanor Y. Chen, Jeffrey Yeh, and Jose G. Mantilla
- Subjects
Adult ,Male ,0301 basic medicine ,Pathology ,medicine.medical_specialty ,Soft Tissue Neoplasm ,Soft Tissue Neoplasms ,Biology ,Pathology and Forensic Medicine ,03 medical and health sciences ,Exon ,0302 clinical medicine ,medicine ,Humans ,Oncogene Fusion ,Receptor, Fibroblast Growth Factor, Type 1 ,Receptor Tyrosine Kinase Gene ,Receptor, trkA ,Aged ,Neoplasms, Connective Tissue ,c-Mer Tyrosine Kinase ,Cartilage ,Calcinosis ,Soft tissue ,Middle Aged ,MERTK ,medicine.disease ,Receptor, TIE-2 ,Fibronectins ,stomatognathic diseases ,030104 developmental biology ,medicine.anatomical_structure ,030220 oncology & carcinogenesis ,Female ,Fibroblast Growth Factor 2 ,Tyrosine kinase ,Calcification - Abstract
Translocations involving FN1 have been described in a variety of neoplasms that share the presence of a cartilage matrix and may also contain a variable extent of calcification. Fusions of FN1 to FGFR1 or FGFR2 have been reported in nine soft tissue chondromas, mostly demonstrated indirectly by FISH analysis. Delineation of FN1 fusions with various partner genes will facilitate our understanding of the pathogenesis and diagnostic classification of these neoplasms. In this study, we present molecular, clinical, and pathologic features of 12 cartilaginous soft tissue neoplasms showing a predilection for the TMJ region and the distal extremities. We analyzed for gene fusions with precise breakpoints using targeted RNA-seq with a 115-gene panel. We detected gene fusions in ten cases, including three novel fusions, FN1-MERTK, FN1-NTRK1, and FN1-TEK, each in one case, recurrent FN1-FGFR2 fusion in five cases, FN1-FGFR1 in one case, and FGFR1-PLAG1 in one case. The breakpoints in the 5' partner gene FN1 ranged from exons 11-48, retaining the domains of a signal peptide, FN1, FN2, and/or FN3, while the 3' partner genes retained the transmembrane domain, tyrosine kinase (TK) domains, and/or Ig domain. The tumors are generally characterized by nodular/lobular growth of polygonal to stellate cells within a chondroid matrix, often accompanied by various patterns of calcification, resembling those described for the chondroblastoma-like variant of soft tissue chondroma. Additional histologic findings include extensive calcium pyrophosphate dihydrate deposition in two cases and features resembling tenosynovial giant cell tumor (TGCT). Overall, while the tumors from our series show significant morphologic overlap with chondroblastoma-like soft tissue chondroma, we describe findings that expand the morphologic spectrum of these neoplasms and therefore refer to them as "calcified chondroid mesenchymal neoplasms." These neoplasms represent a spectrum of chondroid/cartilage matrix-forming tumors harboring FN1-receptor TK fusions that include those classified as soft tissue chondroma as well as chondroid TGCT.
- Published
- 2021
35. Tumor-induced osteomalacia – a mystery illness beyond aches, pains, and depression
- Author
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Roderick J. Clifton-Bligh, Małgorzata Brzozowska, and Huajing Jing Ni
- Subjects
Fibroblast growth factor 23 ,musculoskeletal diseases ,medicine.medical_specialty ,oncogenic osteomalacia ,Paraneoplastic Syndromes ,mesenchymal tumor ,Endocrinology, Diabetes and Metabolism ,Pain ,Parathyroid hormone ,urologic and male genital diseases ,Diseases of the endocrine glands. Clinical endocrinology ,Endocrinology ,Positron Emission Tomography Computed Tomography ,medicine ,Humans ,Radionuclide Imaging ,Bone pain ,Depression (differential diagnoses) ,paraneoplastic hypophosphatemia ,Neoplasms, Connective Tissue ,Osteomalacia ,Depression ,business.industry ,tumor-induced osteomalacia ,phosphatonin ,Mesenchymal Tumor ,technology, industry, and agriculture ,nutritional and metabolic diseases ,medicine.disease ,RC648-665 ,Oncogenic osteomalacia ,Positron-Emission Tomography ,Radiology ,fibroblast growth factor-23 ,medicine.symptom ,business ,Hypophosphatemia - Abstract
Objective. Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome characterized by chronic hypophosphatemia and osteomalacia. We present case of a patient with a protracted clinical course of TIO. TIO profoundly affected every aspect of his life with subsequent profound physical and psychosocial disabilities. Method. The review of a complex clinical presentation, serial laboratory investigations, and imaging modalities of a patient with TIO caused by a mesenchymal tumor. Results. The patient presented with chronic lower back pain, severe bilateral leg weakness, and multiple pathological fractures due to severe osteoporosis. His investigations revealed hypophosphatemia, low 1,25 dihydroxyvitamin D, phosphaturia and normal serum calcium, and parathyroid hormone. Elevated fibroblast growth factor 23 (FGF23) confirmed the diagnosis of TIO and 68Ga-DOTATATE-positron emission tomography/computed tomography (PET/CT) imaging correctly identified a tumor in the left femoral head. His clinical features and biochemical abnormalities promptly recovered after successful surgical resection of the mesenchymal tumor. Conclusion. The present case demonstrated the need to extensively investigate causes of generalized bone pain in patients with hypophosphatemia, as TIO is highly curable. Importantly, 68Ga-DOTATATE PET/CT imaging successfully identified the FGF23 producing tumor, which was undetectable by conventional imaging, favoring its early use in suspected TIO presentation. The present report highlights the importance of timely diagnosis of this complex medical condition, aiming to improve general awareness and enable better clinical outcomes for this rare disorder.
- Published
- 2021
36. Uterine Inflammatory Myofibroblastic Neoplasms With Aggressive Behavior, Including an Epithelioid Inflammatory Myofibroblastic Sarcoma
- Author
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Armando Reques Llanos, Preetha Ramalingam, Katrina Collins, Elizabeth D. Euscher, Anais Malpica, and Ángel García
- Subjects
Adult ,Pathology ,medicine.medical_specialty ,Lymphovascular invasion ,Biopsy ,medicine.medical_treatment ,Pathology and Forensic Medicine ,Diagnosis, Differential ,Predictive Value of Tests ,Biomarkers, Tumor ,medicine ,Humans ,Nuclear atypia ,Myofibroblasts ,Retrospective Studies ,Neoplasms, Connective Tissue ,Endometrial stromal sarcoma ,business.industry ,Epithelioid Cells ,Middle Aged ,medicine.disease ,Radiation therapy ,Treatment Outcome ,Uterine Neoplasms ,Immunohistochemistry ,Female ,Surgery ,Sarcoma ,Neoplasm Recurrence, Local ,Anatomy ,Differential diagnosis ,business ,Epithelioid cell - Abstract
The experience with uterine inflammatory myofibroblastic neoplasms with an unfavorable outcome is limited. We present the clinicopathologic features of 9 such cases, including 8 inflammatory myofibroblastic tumors (IMTs) and 1 epithelioid inflammatory myofibroblastic sarcoma (EIMS). Median patient age for the IMT group was 50.5 years; the patient with EIMS was 43 years old. Patients presented with abnormal uterine bleeding, presumed fibroids, pelvic pain, arthralgia and low-grade fever, as well as an incidental finding. Median tumor size for the IMTs was 8.5 cm. The borders were either infiltrative or well-circumscribed. Histologically, IMTs were purely fascicular or myxoid or showed predominance of one or the other pattern. Seven tumors were spindled, and 1 was both spindled and epithelioid. Tumors had variable nuclear atypia, ranging from grade 1 to 3. All tumors had an inflammatory infiltrate-predominantly lymphocytic, majority had necrosis (62.5%) and none had lymphovascular invasion. 7/8 (87.5%) tumors were positive for ALK-1 by immunohistochemistry (IHC). One tumor was negative for ALK-1 by IHC but was positive for ALK fusion by fluorescence in situ hybridization and had TNS1-ALK fusion by next-generation sequencing (NGS). Three other tumors with NGS testing showed one of the following ALK-fusion partners: FN1, DCTN1, and IGFBP5. The EIMS had infiltrative borders, myxoid and hyalinized patterns, epithelioid cells, and no lymphovascular invasion. This tumor was ALK-1 positive by IHC, had ALK rearrangement by fluorescence in situ hybridization and RANBP2-ALK fusion by NGS. Extrauterine disease at time of diagnosis was noted in 2/8 (25%) of IMTs, and in the single case of EIMS. Seven patients had surgery as primary treatment, 1 patient had neoadjuvant chemotherapy and 1 patient declined treatment. Patients with recurrence were treated with a combination of chemotherapy, targeted therapy, radiotherapy or hormonal therapy. Most patients (71.4%) recurred within 24 months (mos). Two thirds of patients were alive with disease at last follow up (mean 43.6 mos). The patient with EIMS was alive with disease at 22 mos. IMT referral cases were initially diagnosed as smooth muscle tumors in 87.5% of cases; while the EIMS was diagnosed as high-grade endometrial stromal sarcoma. Lack of consideration of IMT in the differential diagnosis of smooth muscle tumors with myxoid features can result in misdiagnosis and under-utilization of targeted therapy in these patients.
- Published
- 2021
37. Progressive atrophic indurated plaques in a 16‐year‐old boy
- Author
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W. Abdelrahman, A. Shahid, Eduardo Calonje, Kathryn Shepherd, E. Lebas, S. Baron, and Vinay Shivamurthy
- Subjects
Male ,Leg ,Neoplasms, Connective Tissue ,medicine.medical_specialty ,Skin Neoplasms ,Adolescent ,business.industry ,Dermatology ,Fibroblasts ,Nevus, Spindle Cell ,medicine ,Humans ,Atrophy ,business - Published
- 2021
38. Editorial: precision medicine of sarcomas and aggressive connective tissue tumours: from one-size-fits-all to haute couture
- Author
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Jean-Yves Blay
- Subjects
Cancer Research ,Neoplasms, Connective Tissue ,Oncology ,Humans ,Sarcoma ,Soft Tissue Neoplasms ,Precision Medicine - Published
- 2022
39. New Drug Approvals for Sarcoma in the Last 5 Years
- Author
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Prapassorn Thirasastr, Mehdi Brahmi, Armelle Dufresne, Neeta Somaiah, and Jean-Yves Blay
- Subjects
Neoplasms, Connective Tissue ,Oncology ,Humans ,Surgery ,Sarcoma ,Soft Tissue Neoplasms ,Precision Medicine ,Drug Approval - Abstract
Sarcoma and locally aggressive connective tissue tumors are a complex group of diseases with a growing number of histotypes in the most recent WHO classification. Most of these tumors are rare (incidence6/10
- Published
- 2022
40. Phosphaturic Mesenchymal Tumor
- Author
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J.C. Benson, J.A. Trejo-Lopez, A.M. Nassiri, K. Eschbacher, M.J. Link, C.L. Driscoll, R.D. Tiegs, J. Sfeir, and D.R. DeLone
- Subjects
Neoplasms, Connective Tissue ,Paraneoplastic Syndromes ,Osteomalacia ,Humans ,Mesenchymoma ,Radiology, Nuclear Medicine and imaging ,Neurology (clinical) ,Head & Neck - Abstract
Phosphaturic mesenchymal tumors (PMTs) are neoplasms associated with tumor-induced osteomalacia. Patients typically present with pathologic fractures in the setting of chronic hypophosphatemic hyperphosphaturic osteomalacia, as well as gradual muscle weakness, bone pain, and difficulty walking. Because of their rarity and nonspecific symptomatology, phosphaturic mesenchymal tumors often go undiagnosed for years. Even when discovered on imaging, the tumors can be diagnostically challenging for radiologists. Phosphaturic mesenchymal tumors often tend to be small and can be located nearly anywhere in the body, and, therefore, can mimic many other tumors. This case highlights the imaging and pathologic markers of a phosphaturic mesenchymal tumor, often found in a patient with tumor-induced osteomalacia.
- Published
- 2022
41. [FGF23 tumor induced osteomalacia]
- Author
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S. A. Gronskaia, Zh. E. Belaya, and G. A. Melnichenko
- Subjects
Fibroblast Growth Factors ,Neoplasms, Connective Tissue ,Paraneoplastic Syndromes ,Endocrinology, Diabetes and Metabolism ,Osteomalacia ,Humans ,Phosphorus ,Vitamin D - Abstract
Tumor induced osteomalacia is a rare acquired disease. The cause is a mesenchymal tumor secreting fibroblast growth factor 23 (FGF23). An excessive amount of FGF 23 disrupts the metabolism of phosphorus and vitamin D, which leads to severe paraneoplastic syndrome, manifested in the form of multiple fractures, severe pain in the bones and generalized myopathy. With oncogenic osteomalacia, a complete cure is possible with radical resection of the tumor. Unfortunately, localization, small size of formations and rare frequency of occurrence lead to the fact that the disease remains unrecognized for a long time and leads to severe, disabling consequences. A step-by-step approach to diagnosis improves treatment outcomes. First, a thorough anamnesis is collected, then functional visualization is performed and the diagnosis is confirmed by anatomical visualization of the tumor. After that, the method of choice is a surgical treatment. If resection is not possible, then conservative therapy with active metabolites of vitamin D and phosphorus salts is indicated. New therapeutic approaches, such as the antibody to FGF23 or the pan-inhibitor of receptors to FGF, are actively developing. This article provides an overview of modern approaches to the diagnosis and treatment of this disease.
- Published
- 2022
42. Fibrous hamartoma of infancy with sarcomatous transformation: an unusual morphology
- Author
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Kapatia, Gargi, Chatterjee, Debajyoti, Gupta, Kirti, and Trehan, Amita
- Subjects
Neoplasms, Connective Tissue ,Hamartoma ,Neoplasms, Fibrous Tissue ,Neoplasms, Connective and Soft Tissue - Abstract
Background Fibrous hamartoma of infancy (FHI) is a rare soft tissue lesion arising as a subcutaneous mass involving the axilla, trunk, and upper arm in infants and children
- Published
- 2022
43. Calcium electroporation in primary cutaneous marginal zone lymphoma
- Author
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Falk G. Bechara, Lisa Scholl, René Stranzenbach, and Martin Doerler
- Subjects
Neoplasms, Connective Tissue ,Pathology ,medicine.medical_specialty ,Skin Neoplasms ,business.industry ,Lymphoma, Non-Hodgkin ,Electroporation ,chemistry.chemical_element ,Dermatology ,Calcium ,medicine.disease ,chemistry ,medicine ,Humans ,Primary cutaneous marginal zone lymphoma ,business - Published
- 2021
44. Prognostic Value of Positive Presurgical FDG PET/CT in the Evaluation of Tumor-Induced Osteomalacia
- Author
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Shu Zhang, Li Huo, Hongli Jing, Peipei Wang, and Fang Li
- Subjects
Adult ,Male ,medicine.medical_specialty ,Paraneoplastic Syndromes ,Octreotide ,030218 nuclear medicine & medical imaging ,03 medical and health sciences ,0302 clinical medicine ,Fluorodeoxyglucose F18 ,Predictive Value of Tests ,Positron Emission Tomography Computed Tomography ,Surgical removal ,Organometallic Compounds ,medicine ,Recurrent disease ,Humans ,Radiology, Nuclear Medicine and imaging ,Aged ,Retrospective Studies ,Neoplasms, Connective Tissue ,Osteomalacia ,business.industry ,General Medicine ,Serum phosphate ,Middle Aged ,Prognosis ,medicine.disease ,Symptomatic relief ,Primary tumor ,030220 oncology & carcinogenesis ,Preoperative Period ,Female ,Fdg pet ct ,Radiology ,business ,Hypophosphatemia - Abstract
METHODS Seventy-six patients who had surgically removed tumors that caused osteomalacia were included in this retrospective investigation. All patients underwent both 18F-FDG and 68Ga-DOTATATE PET/CT prior to surgery. The prognostic value of presurgical FDG PET/CT study was determined with 5-year follow-up. RESULTS In the presurgical evaluation, 68Ga-DOTATATE detected lesions in all 76 patients. However, FDG PET/CT was positive in only 25 among all 76 patients. Following surgical removal of the causative tumor, all 76 patients had symptomatic relief and normalization of the serum phosphate level initially. However, 15 of 76 cases (19.7%) had recurrent hypophosphatemia and became symptomatic again during the follow-up. Among these 15 patients with recurrence, 11 (73.3%) had recurrent lesions at the original location of the resected causative tumors, whereas 4 were in other locations due to malignant nature of the primary tumor. Interestingly, 14 of these 15 patients with recurrent disease had positive presurgical FDG PET/CT findings with an incident ratio of 56.0% (14 of 25). In contrast, only 1 patient with recurrent disease had negative presurgical FDG PET/CT scan with an incident ratio of 1.9% (1 of 51), significantly less than the positive presurgical FDG PET/CT group (P < 0.05). CONCLUSIONS A positive presurgical FDG PET/CT suggests increased likelihood for possible recurrence of TIO after surgical resection. In contrast, when a causative tumor detected by 68Ga-DOTATATE PET/CT does not have elevated activity on FDG PET/CT, the chance of recurrence is very small.
- Published
- 2020
45. A cartilage-forming tumor of the mandibular angle: a case report
- Author
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Ayman, Ismail, Imane, Boujguenna, Koussay, Hattab, Nadia, Mansouri, Najat Cherif Idrissi, El Ganouni, Mariem Ouali, Idrissi, Fatima Ezzahra, Hazmiri, and Hanane, Rais
- Subjects
Male ,Mandibular Neoplasms ,Neoplasms, Connective Tissue ,Osteosarcoma ,Cartilage ,Rare Diseases ,Chondrosarcoma ,Humans ,Pain ,Mandible ,General Medicine ,Aged - Abstract
Background Mandible can be the site of benign or malignant lesions of different origins, including odontogenic and non-odontogenic lesions. Cartilage-forming tumors have been rarely reported at this site. Chondrosarcoma is a rare malignant cartilage-producing neoplasm that is extremely rare in the mandible. The rarity of cartilage-forming tumor occurrence in the mandible can make diagnosis difficult for pathologists, as they do not expect this type of tumor at this anatomical site. Here we report a case of chondrosarcoma of mandibular angle. Case presentation A 70-year-old Moroccan male patient consulted a dentist for wisdom tooth pain. Wisdom tooth extraction was conducted. After 6 months, the patient reported the recurrence of pain associated with swelling in the mandibular area and paresthesia along the path of the mandibular nerve. A panoramic radiograph demonstrated a mixed radiolucent–opaque lesion involving the mandibular angle. Computed tomography showed a large osteolytic spontaneously hypointense and multilobulated lesion. A biopsy was done. Histopathological examination revealed sheets and irregular lobules of atypical cells presenting cartilaginous differentiation. Tumor cells showed severe nuclear atypia and were located within a hyaline cartilage matrix. Some foci of necrosis were noted. Osteoid deposits were not found. The patient was diagnosed with grade III chondrosarcoma and underwent a right segmental mandibulectomy with submandibular lymph node dissection. Macroscopically, the tumor was localized in the mandibular angle with extension in the mandibular body. Histopathology confirmed the previous diagnosis of grade III chondrosarcoma and did not show any lymph node metastasis. Conclusions Owing to many histological similarities, grade III chondrosarcoma must be distinguished from chondroblastic osteosarcoma and metastatic lesions. In addition, chondroblastic osteosarcoma of the jawbones has a worse prognosis than chondrosarcoma, making the distinction between these two malignant tumors the most important concern of the pathologist when dealing with a cartilage-forming tumor at this site. Surgery with wide excision margins remains the best therapeutic approach, while the role of radiotherapy is controversial. The management of mandibular chondrosarcoma requires a multidisciplinary approach involving maxillofacial surgeons, radiologists, pathologists, and oncologists.
- Published
- 2022
46. Schmorl Node Can Cause Increased 68Ga-FAPI Activity on PET/CT
- Author
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Junhao Wu, Wenxin Tang, Yingwei Wang, Weidong Gong, and Chunyin Zhang
- Subjects
Neoplasms, Connective Tissue ,Positron Emission Tomography Computed Tomography ,Quinolines ,Humans ,Radiology, Nuclear Medicine and imaging ,Biological Transport ,General Medicine - Abstract
68Ga-FAPI is a newly developed tumor imaging agent with promising clinical applications. However, benign lesions may also show increased FAPI activity. We accidentally discovered that Schmorl node expressed FAPI activity in a patient with sweat gland cancer. Thus, greater awareness is needed that Schmorl nodes are a potential reason for false-positive uptake on 68Ga-FAPI PET/CT.
- Published
- 2022
47. Phosphaturic Mesenchymal Tumors in the Head and Neck Demonstrate a Broad Clinical and Morphologic Spectrum
- Author
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K. R. Hulme, A. Mahar, R. G. Campbell, R. Clifton-Bligh, A. J. Gill, C. E. Palme, and R. Gupta
- Subjects
Fibroblast Growth Factors ,Neoplasms, Connective Tissue ,Oncology ,Otorhinolaryngology ,Paraneoplastic Syndromes ,Osteomalacia ,Humans ,Mesenchymoma ,Soft Tissue Neoplasms ,Case Reports ,Pathology and Forensic Medicine - Abstract
Phosphaturic mesenchymal tumour (PMT) is a rare tumour that occurs in bone or soft tissue and is associated with production of fibroblast growth factor 23 (FGF23) leading to tumor-induced osteomalacia. We report three cases of PMT involving the head and neck that highlight the broad spectrum of clinical and histologic features of PMT. One of these lesions from the hard palate demonstrated an admixture of epithelial and mesenchymal elements, a feature that can pose a diagnostic challenge. The diagnostic utility of immunohistochemistry including FGF23, somatostatin receptor 2A, SATB2, ERG and CD56 is discussed. The biochemical pathway in the development of PMT associated tumor induced osteomalacia and its role in investigations and management of PMT is also described.
- Published
- 2022
48. Malignant Chondroid Syringoma of the Face With Distant Metastasis.
- Author
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Miranda JA, Mazzotta MM, and Zalazar ÉV
- Subjects
- Humans, Female, Adenoma, Pleomorphic pathology, Sweat Gland Neoplasms, Bone Neoplasms, Breast Neoplasms, Neoplasms, Connective Tissue
- Published
- 2023
- Full Text
- View/download PDF
49. Update of pediatric bone tumors-notochordal tumors, chondrogenic tumors, and vascular tumors of the bone.
- Author
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Lee H, Wang A, Cheng R, Moran J, Al-Dasuqi K, Irshaid L, Maloney E, and Porrino J
- Subjects
- Humans, Child, Prognosis, World Health Organization, Diagnostic Imaging, Neoplasms, Connective Tissue, Bone Neoplasms diagnosis
- Abstract
There are numerous bone tumors in the pediatric population, with imaging playing an essential role in diagnosis and management. Our understanding of certain bone tumors has rapidly evolved over the past decade with advancements in next-generation genetic sequencing techniques. This increased level of understanding has altered the nomenclature, management approach, and prognosis of certain lesions. We provide a detailed update of bone tumors that occur in the pediatric population with emphasis on the recently released nomenclature provided in the 5
th edition of the World Health Organization Classification of Soft Tissue and Bone Tumours. In the current manuscript, we address notochordal tumors, chondrogenic tumors, and vascular tumors of the bone., (© 2022. The Author(s), under exclusive licence to International Skeletal Society (ISS).)- Published
- 2023
- Full Text
- View/download PDF
50. Bizarre parosteal osteochondromatous proliferation (Nora's lesion) of the hand: management of a rare clinical entity.
- Author
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Misky AT, Thomson D, and Jain A
- Subjects
- Humans, Female, Fingers pathology, Cell Proliferation, Osteochondroma diagnostic imaging, Osteochondroma surgery, Bone Neoplasms diagnostic imaging, Bone Neoplasms surgery, Cartilage, Articular pathology, Neoplasms, Connective Tissue, Soft Tissue Neoplasms
- Abstract
Bizarre parosteal osteochondromatous proliferation, or Nora's lesion, is a rare benign tumour of the bone, most commonly described in the hands and feet. We present the case of a female patient in her 20s attending the hand clinic with a sudden onset, atraumatic swelling on the proximal phalanx of her right ring finger. The patient retains good hand function and remains asymptomatic 3 months after surgical excision. Our case highlights the importance of being aware of this diagnosis and differentiating it from other malignant, as well as benign tumours of the hand., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ.)
- Published
- 2023
- Full Text
- View/download PDF
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